Linked Data
dbSNP Id:
rs754010312
ExAC:
16:1411756 T / G
gnomAD v2:
16-1411756-T-G
gnomAD v4:
16-1361755-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1361755T>G , CM000678.2:g.1361755T>G | GRCh38 |
| NC_000016.9:g.1411756T>G , CM000678.1:g.1411756T>G | GRCh37 |
| NC_000016.8:g.1351757T>G | NCBI36 |
| NG_016985.1:g.14857T>G | |
| NG_033129.1:g.57950A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.290T>G | ||
| ENST00000529110.2:c.275T>G | ENSP00000435349.2:p.Leu92Arg | |
| ENST00000529957.6:n.249T>G | ||
| ENST00000683366.1:c.179-117T>G | ENSP00000507283.1:n.179-117T>G | |
| ENST00000683887.1:c.239T>G | ENSP00000506886.1:p.Leu80Arg | |
| ENST00000684100.1:n.111T>G | ||
| ENST00000684126.1:n.249T>G | ||
| ENST00000684688.1:n.816T>G | ||
| ENST00000204679.9:c.191T>G MANE Select | ENSP00000204679.4:p.Leu64Arg | |
| ENST00000204679.8:c.191T>G | ENSP00000204679.4:p.Leu64Arg | |
| ENST00000526820.5:c.*93T>G | ENSP00000434413.1:n.*93T>G | |
| ENST00000527076.1:n.1133T>G | ||
| ENST00000527168.5:n.270-117T>G | ||
| ENST00000529110.1:c.258T>G | ||
| ENST00000529957.5:n.290T>G | ||
| NM_032520.4:c.191T>G | NP_115909.1:p.Leu64Arg | |
| XM_017023782.1:c.239T>G | XP_016879271.1:p.Leu80Arg | |
| XM_017023783.1:c.-170T>G | XP_016879272.1:n.-170T>G | |
| NM_032520.5:c.191T>G MANE Select | NP_115909.1:p.Leu64Arg |